Varaico: Literature-Extracted Genetic Variants

Gene:JAK3
Variant:p.S596Splc
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JAK3

NM_000215.4:p.S596Splc

Associated Papers

Graft versus host disease and microchimerism in a JAK3 deficient patient.

Shahbazi Z et al.

Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2019

Chronic active Epstein-Barr virus infection as the initial symptom in a Janus kinase 3 deficiency child: Case report and literature review.

Zhong L et al.

Medicine, 2017

Hypomorphic Janus kinase 3 mutations result in a spectrum of immune defects, including partial maternal T-cell engraftment.

Cattaneo F et al.

The Journal of Allergy and Clinical Immunology, 2013

IL-21 is the primary common γ chain-binding cytokine required for human B-cell differentiation in vivo.

Recher M et al.

Blood, 2011

Identification of an infant with severe combined immunodeficiency by newborn screening.

Hale JE et al.

The Journal of Allergy and Clinical Immunology, 2010

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."